Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-64564550-C-T c.-270C>T 5_prime_UTR_premature_start_codon_gain ADO 2 6854 2.918E-4 3427 0 3.19224E-5
10-64564641-C-T c.-179C>T 5_prime_UTR_premature_start_codon_gain ADO 4 16908 2.36574E-4 8454 0 6.45161E-5
10-64564680-G-C c.-140G>C 5_prime_UTR_premature_start_codon_gain ADO 54 23896 0.00225979 11948 0 0.00690456
10-64564700-C-T c.-120C>T 5_prime_UTR_premature_start_codon_gain ADO 1 26926 3.71388E-5 13463 0 NA
10-64564756-C-T c.-64C>T 5_prime_UTR_premature_start_codon_gain ADO 3 41058 7.30674E-5 20529 0 NA
10-64564815-C-T c.-5C>T 5_prime_UTR_premature_start_codon_gain ADO 5 57724 8.66191E-5 28862 0 4.63883E-4
10-64564822-G-A p.Met1? start_lost ADO 6 59692 1.00516E-4 29846 0 0.00152905
10-64564827-G-A p.Arg3Gln missense ADO 1 60460 1.65399E-5 30230 0 4.11624E-5
10-64564833-A-G p.Asn5Ser missense ADO 1 62212 1.60741E-5 31106 0 7.09049E-6
10-64564853-C-G p.Arg12Gly missense ADO 1 64324 1.55463E-5 32162 0 NA
10-64564858-C-T p.Ile13Ile synonymous ADO 2 64286 3.1111E-5 32143 0 1.23879E-4
10-64564860-C-T p.Ala14Val missense ADO 2 64254 3.11265E-5 32127 0 NA
10-64564881-T-C p.Phe21Ser missense ADO 1 66046 1.5141E-5 33023 0 NA
10-64564892-G-T p.Gly25Trp missense ADO 18943 63498 0.298324 31749 2933 0.39229
10-64564892-G-C p.Gly25Arg missense ADO 1 65934 1.51667E-5 32967 0 NA
10-64564893-G-A p.Gly25Glu missense ADO 1 66234 1.5098E-5 33117 0 NA
10-64564895-G-A p.Gly26Ser missense ADO 1 66156 1.51158E-5 33078 0 NA
10-64564916-C-T p.Arg33Cys missense ADO 1 68194 1.4664E-5 34097 0 2.15283E-4
10-64564919-G-A p.Asp34Asn missense ADO 1 68010 1.47037E-5 34005 0 2.47831E-5
10-64564919-G-C p.Asp34His missense ADO 2 68010 2.94074E-5 34005 0 NA
10-64564921-C-T p.Asp34Asp synonymous ADO 1 68368 1.46267E-5 34184 0 1.87608E-5
10-64564933-C-T p.Gly38Gly synonymous ADO 1 69562 1.43757E-5 34781 0 1.13086E-5
10-64564934-C-G p.Pro39Ala missense ADO 22573 66716 0.338345 33358 4130 0.391549
10-64564935-C-T p.Pro39Leu missense ADO 2 69986 2.85771E-5 34993 0 1.8381E-4
10-64564936-G-A p.Pro39Pro synonymous ADO 1 69958 1.42943E-5 34979 0 1.01663E-5
10-64564939-G-A p.Glu40Glu synonymous ADO 1 70636 1.41571E-5 35318 0 NA
10-64564941-C-T p.Ala41Val missense ADO 1 70394 1.42058E-5 35197 0 5.00691E-5
10-64564954-G-C p.Pro45Pro synonymous ADO 1 73182 1.36646E-5 36591 0 NA
10-64564963-C-G p.Pro48Pro synonymous ADO 3 74592 4.02188E-5 37296 0 3.87507E-5
10-64564970-C-G p.Leu51Val missense ADO 1 75472 1.32499E-5 37736 0 NA
10-64564972-G-A p.Leu51Leu synonymous ADO 1 75728 1.32052E-5 37864 0 NA
10-64564987-C-T p.Ser56Ser synonymous ADO 1 77028 1.29823E-5 38514 0 NA
10-64565002-C-T p.Leu61Leu synonymous ADO 1 78028 1.28159E-5 39014 0 1.27023E-5
10-64565006-G-A p.Ala63Thr missense ADO 4 78050 5.12492E-5 39025 0 2.12296E-5
10-64565008-C-G p.Ala63Ala synonymous ADO 1 78244 1.27805E-5 39122 0 NA
10-64565011-G-A p.Glu64Glu synonymous ADO 4456 78128 0.0570346 39064 141 0.0736726
10-64565017-G-A p.Leu66Leu synonymous ADO 1 78642 1.27159E-5 39321 0 NA
10-64565019-A-G p.Asn67Ser missense ADO 2 78646 2.54304E-5 39323 0 1.27343E-5
10-64565033-A-C p.Lys72Gln missense ADO 1 78800 1.26904E-5 39400 0 NA
10-64565041-A-G p.Thr74Thr synonymous ADO 2 78842 2.53672E-5 39421 0 3.01544E-5
10-64565046-A-AGCCGCTGCCGCCCAACCTGCC p.Pro84_Val85insLeuProProAsnLeuProPro disruptive_inframe_insertion ADO 1 78798 1.26907E-5 39399 0 NA
10-64565050-G-A p.Pro77Pro synonymous ADO 1 78842 1.26836E-5 39421 0 0.0015121
10-64565050-GCTGCCGCCCAAC-G p.Asn81_Pro84del disruptive_inframe_deletion ADO 1 78842 1.26836E-5 39421 0 NA
10-64565052-T-G p.Leu78Arg missense ADO 1 78798 1.26907E-5 39399 0 9.56755E-5
10-64565057-C-G p.Pro80Ala missense ADO 1 78604 1.2722E-5 39302 0 4.29646E-6
10-64565061-A-G p.Asn81Ser missense ADO 3 78600 3.81679E-5 39300 0 8.1693E-5
10-64565086-C-T p.His89His synonymous ADO 1 79066 1.26477E-5 39533 0 1.1443E-5
10-64565091-A-G p.Tyr91Cys missense ADO 1 79170 1.2631E-5 39585 0 1.18354E-5
10-64565092-C-T p.Tyr91Tyr synonymous ADO 1 79212 1.26243E-5 39606 0 NA
10-64565095-G-A p.Glu92Glu synonymous ADO 4 79244 5.0477E-5 39622 0 2.38652E-5
10-64565099-G-C p.Asp94His missense ADO 1 79302 1.261E-5 39651 0 3.18593E-5
10-64565122-C-T p.Phe101Phe synonymous ADO 1 79514 1.25764E-5 39757 0 3.18715E-5
10-64565126-C-T p.Leu103Phe missense ADO 1 79546 1.25713E-5 39773 0 1.45226E-5
10-64565137-C-G p.Gly106Gly synonymous ADO 2 79566 2.51364E-5 39783 0 1.62153E-5
10-64565150-C-T p.Leu111Leu synonymous ADO 4 79532 5.02942E-5 39766 0 4.7335E-6
10-64565150-C-CTGCACGACCACCCGGGCA p.Asp113_His118dup disruptive_inframe_insertion ADO 1 79532 1.25736E-5 39766 0 NA
10-64565164-G-A p.Pro115Pro synonymous ADO 1 79516 1.25761E-5 39758 0 NA
10-64565167-C-T p.Gly116Gly synonymous ADO 8 79498 1.00631E-4 39749 0 1.59368E-4
10-64565171-C-T p.His118Tyr missense ADO 1 79414 1.25922E-5 39707 0 NA
10-64565176-C-T p.Gly119Gly synonymous ADO 4 79338 5.04172E-5 39669 0 2.23129E-4
10-64565199-C-T p.Thr127Ile missense ADO 1 78654 1.27139E-5 39327 0 1.23758E-5
10-64565207-A-G p.Ile130Val missense ADO 1 78488 1.27408E-5 39244 0 6.42508E-6
10-64565209-C-T p.Ile130Ile synonymous ADO 4 78428 5.10022E-5 39214 0 9.56389E-5
10-64565212-C-T p.Ser131Ser synonymous ADO 1 78286 1.27737E-5 39143 0 4.91981E-5
10-64565218-G-A p.Met133Ile missense ADO 1 78026 1.28162E-5 39013 0 NA
10-64565227-A-G p.Leu136Leu synonymous ADO 3 77500 3.87097E-5 38750 0 NA
10-64565234-G-A p.Gly139Ser missense ADO 1 77058 1.29772E-5 38529 0 NA
10-64565240-G-A p.Gly141Arg missense ADO 1 76778 1.30246E-5 38389 0 7.47138E-6
10-64565242-G-A p.Gly141Gly synonymous ADO 5 76590 6.52827E-5 38295 0 9.02717E-5
10-64565244-A-G p.Gln142Arg missense ADO 1 76626 1.30504E-5 38313 0 NA
10-64565245-A-G p.Gln142Gln synonymous ADO 1 76434 1.30832E-5 38217 0 1.50478E-5
10-64565249-C-T p.Pro144Ser missense ADO 3 76416 3.92588E-5 38208 0 7.47406E-6
10-64565250-C-T p.Pro144Leu missense ADO 4 76346 5.23931E-5 38173 0 NA
10-64565252-C-T p.Arg145Trp missense ADO 13 76264 1.70461E-4 38132 0 0.00469729
10-64565257-C-G p.Ala146Ala synonymous ADO 1 76528 1.30671E-5 38264 0 NA
10-64565262-C-A p.Pro148Gln missense ADO 1 76094 1.31416E-5 38047 0 0.00365344
10-64565289-T-G p.Leu157Arg missense ADO 1 76478 1.30757E-5 38239 0 NA
10-64565311-CG-C p.Val165fs frameshift ADO 1 77532 1.28979E-5 38766 0 6.52818E-6
10-64565312-G-A p.Val165Met missense ADO 8 77618 1.03069E-4 38809 0 5.7201E-4
10-64565341-C-G p.Ala174Ala synonymous ADO 1 79324 1.26065E-5 39662 0 NA
10-64565344-G-A p.Glu175Glu synonymous ADO 1 79646 1.25556E-5 39823 0 NA
10-64565348-A-T p.Thr177Ser missense ADO 1 79870 1.25203E-5 39935 0 NA
10-64565355-C-A p.Ala179Asp missense ADO 30 80170 3.74205E-4 40085 0 0.00252781
10-64565384-C-G p.Arg189Gly missense ADO 1 81214 1.23131E-5 40607 0 6.85119E-5
10-64565398-C-T p.His193His synonymous ADO 1 81384 1.22874E-5 40692 0 4.19988E-6
10-64565399-C-G p.Gln194Glu missense ADO 1 81416 1.22826E-5 40708 0 1.40607E-5
10-64565407-C-T p.Asp196Asp synonymous ADO 8 81418 9.82584E-5 40709 0 0.00151057
10-64565420-C-T p.Pro201Ser missense ADO 2 81442 2.45574E-5 40721 0 NA
10-64565432-C-G p.Leu205Val missense ADO 2 81396 2.45712E-5 40698 0 3.5389E-5
10-64565434-G-A p.Leu205Leu synonymous ADO 328 81384 0.00403028 40692 5 0.00949528
10-64565440-C-T p.Ile207Ile synonymous ADO 3 81336 3.6884E-5 40668 0 NA
10-64565456-G-A p.Asp213Asn missense ADO 1 80962 1.23515E-5 40481 0 NA
10-64565458-C-T p.Asp213Asp synonymous ADO 1 81008 1.23445E-5 40504 0 8.04912E-5
10-64565463-A-G p.Asp215Gly missense ADO 1 80822 1.23729E-5 40411 0 NA
10-64565464-C-T p.Asp215Asp synonymous ADO 3 80762 3.71462E-5 40381 0 NA
10-64565466-A-T p.Asp216Val missense ADO 1 80716 1.23891E-5 40358 0 NA
10-64565468-G-T p.Gly217Cys missense ADO 1 80728 1.23873E-5 40364 0 NA
10-64565476-C-T p.Asp219Asp synonymous ADO 1 80616 1.24045E-5 40308 0 0.005
10-64565488-C-T p.Tyr223Tyr synonymous ADO 1 80250 1.24611E-5 40125 0 NA
10-64565490-G-A p.Arg224Gln missense ADO 1 80190 1.24704E-5 40095 0 NA
10-64565494-G-A p.Val225Val synonymous ADO 3 79908 3.75432E-5 39954 0 NA
10-64565507-A-G p.Arg230Gly missense ADO 1 79424 1.25907E-5 39712 0 5.05051E-4
10-64565516-G-A p.Glu233Lys missense ADO 1 79152 1.26339E-5 39576 0 NA
10-64565533-C-T p.Ala238Ala synonymous ADO 1 78494 1.27398E-5 39247 0 3.93054E-4
10-64565547-G-A p.Arg243Gln missense ADO 1 78182 1.27907E-5 39091 0 9.81528E-6
10-64565569-C-T p.Thr250Thr synonymous ADO 1 77756 1.28607E-5 38878 0 2.90377E-5
10-64565595-A-G p.Glu259Gly missense ADO 6 77654 7.72658E-5 38827 0 4.25931E-5
10-64565598-G-C p.Gly260Ala missense ADO 1 77732 1.28647E-5 38866 0 NA